ClinVar Miner

List of variants reported as likely pathogenic for Malignant hyperthermia susceptibility

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Total variants: 4
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HGVS dbSNP
NM_000540.2(RYR1):c.1201C>T (p.Arg401Cys) rs193922764
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397

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